Navigation Links
New gene discovered for new form of intellectual disability

The Centre for Addiction and Mental Health (CAMH) has discovered a new form of intellectual disability involving mental retardation (MR) along with the eye defect retinitis pigmentosa (RP). CAMH also discovered the previously unidentified gene that causes this disorder, CC2D2A. This scientific advance will help understand the developmental and biological processes involved in brain development, and may help identify ways to diagnose and treat intellectual disabilities.

Under the direction of Dr. John Vincent, scientist at CAMH, the team identified a mutation in CC2D2A that causes the production of a shortened protein missing the C2, or calcium-binding, domain. This protein mutation results in faulty cell function, which leads to MR with RP.

Most genes for intellectual disabilities that have been found so far are on the X chromosome. As Dr. Vincent explains, this mutation was found on the autosome (The 22 pairs of non-sex chromosomes, that make up the 46 chromosomes in the human body). Autosomal-recessive inheritance (where both mother and father carry a gene mutation on one chromosome, but both maternal and paternal copies must be passed on to the offspring to cause the disorder) is believed to be relatively common in intellectual disability, though only four genes causing this type of disability have been identified to date.

Whats really exciting is that the new gene, CC2D2A, encodes a protein with domains similar to those found in one of the previous four autosomal recessive MR genes. This link could suggest a common function that is essential for normal brain development, says Dr. Vincent.

Dr. Vincent and his team will continue exploring these initial findings, to help identify more people with mutations affecting the CC2D2A gene. This additional research will provide scientists more clues to understand, diagnose and treat intellectual disabilities.

Intellectual disabilities, also known as developmental delay or mental retardation, are a group of disorders defined by deficits in cognitive and adaptive development. Impacting between one and three percent of the population, a higher proportion of men are affected by this type of disability.


Contact: Michael Torres
Centre for Addiction and Mental Health

Related biology news :

1. New source for biofuels discovered
2. Worlds oldest living tree discovered in Sweden
3. Harlequin frog rediscovered in remote region of Colombia
4. Epigenetic changes discovered in major psychosis
5. A common genetic mechanism discovered in nitrogen-fixing plants
6. ASU researcher may have discovered key to life before its origin on Earth
7. Krill discovered living in the Antarctic abyss
8. Generalist bacteria discovered in coastal waters may be more flexible than known before
9. Proteins new role discovered in autoimmune disease
10. Massive dinosaur discovered in Antarctica sheds light on life, distribution of sauropodomorphs
11. Safe and effective therapy discovered for patients with protein-losing enteropathy
Post Your Comments:
(Date:11/9/2015)... , Nov. 09, 2015 ... addition of the "Global Law Enforcement ... offering. --> ) has ... Law Enforcement Biometrics Market 2015-2019" report ... and Markets ( ) has announced ...
(Date:11/2/2015)... , Nov. 2, 2015  SRI International has ... to provide preclinical development services to the National Cancer ... SRI will provide scientific expertise, modern testing and support ... of preclinical pharmacology and toxicology studies to evaluate potential ... --> The PREVENT Cancer Drug Development Program is ...
(Date:10/29/2015)... RESTON, Va. , Oct. 29, 2015 ... announced today that it has released a new version ... Daon customers in North America ... gains. IdentityX v4.0 also includes a FIDO UAF ... customers are already preparing to activate FIDO features. These ...
Breaking Biology News(10 mins):
(Date:11/24/2015)... - Aeterna Zentaris Inc. (NASDAQ:  AEZS) (TSX: AEZ) (the "Company"), ... Toronto Stock Exchange, confirms that as of the date ... that would cause the recent movements in the Company,s ... About Aeterna Zentaris Inc. . ... Zentaris is a specialty biopharmaceutical company engaged in developing ...
(Date:11/24/2015)... , November 24, 2015 ... new market research report "Oligonucleotide Synthesis Market by Product ... (PCR, Gene Synthesis, Diagnostic, DNA, RNAi), End-User (Research, Pharmaceutical ... published by MarketsandMarkets, the market is expected to reach ... in 2015, at a CAGR of 10.1% during the ...
(Date:11/24/2015)... Muncie, IN (PRWEB) , ... November 24, 2015 , ... ... its newest Special Interest Group (SIG), MultiGP, also known as Multirotor Grand Prix, to ... in the last few years. Many AMA members have embraced this type of racing ...
(Date:11/24/2015)... 2015 --> ... released by Transparency Market Research, the global non-invasive prenatal ... of 17.5% during the period between 2014 and 2022. ... Industry Analysis, Size, Volume, Share, Growth, Trends and Forecast ... market to reach a valuation of US$2.38 bn by ...
Breaking Biology Technology: